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Fabry disease is a rare tesaurismosis due to a deficit of the lysosomal enzyme activity of α-galactosidase, needed for the normal catabolism of globotriaosylceramides (GL3). Fabry cardiac involvement has several clinical manifestations: concentric left ventricular hypertrophy without left ventricular dilation and severe loss of left ventricular systolic function, mitral and aortic valvulopathy, disorders of the atrioventricular conduction or repolarization, and compromised diastolic function. Differentiating Fabry disease from similar conditions is often quite straightforward, e.g. cardiac amyloidosis is often associated with low electrocardiographic voltages, and systemic symptoms are usually associated with hemochromatosis and sarcoidosis. However, sometimes second-level (genetic analysis, α-galactosidase levels) or invasive investigations are required, which can include endomyocardial biopsy. Diagnostic imaging techniques have been described, but they lack specificity. Echocardiographic imaging with tissue Doppler analysis and/or strain rate analysis can allow diagnosis of Fabry disease even before left ventricular hypertrophy becomes apparent. This review illustrates the techniques for staging cardiac involvement and damage in Fabry disease and for the long-term follow-up of Fabry patients with or without cardiac involvement. Careful cardiac monitoring is especially important in elderly female carriers, who often develop renal disorders and/or left ventricular hypertrophy as the only manifestations of their late Fabry disease. In some clinical series, Fabry disease was diagnosed in 12% of women with adult-onset hypertrophic cardiomyopathy. Cardiological problems and outcomes of enzyme replacement therapy, associated with or without other cardiological treatments, are also discussed. © 2010 AIM Publishing Srl.

Integrating volumetric rendering with motion in real-time, three-dimensional (3D) echocardiography is the most suitable imaging technique for assessing heart valves. Today, the rapidly advancing 3D technology allows us to perform a virtual 'dissection' of the heart intra vitam and to discover unprecedented, realistic views of cardiac valves in just a few minutes. The mitral valve is the cardiac structure easiest to visualize by transthoracic or transoesophageal approach. Three-dimensional echocardiography is able to display the non-planar valve leaflets and annulus, the complex subvalvular apparatus and their spatial relationships with the surrounding structures. The complementary use of 3D colour flow adds data about valve integrity and allows the quantitation of valvular diseases. Accumulating evidence suggests that 3D echocardiography is emerging as the reference technique to assess mitral valve morphology and function and guide valvular procedures of mounting complexity. The purpose of this review is to provide an update on the current clinical applications of 3D echocardiography for assessing mitral valves and to stress the incremental benefits of 3D echocardiography over conventional two-dimensional echocardiography.

AIMS: Since there is insufficient data available about the inter-vendor consistency of three-dimensional (3D) speckle-tracking (STE) measurements, we undertook this study to (i) assess the inter-vendor consistency of 3D LV global strain values obtained using two different scanners; (ii) identify the sources of inter-vendor inconsistencies, if any; and (iii) compare their respective intrinsic variability. METHODS AND RESULTS: Sixty patients (38 ± 12 years, 64% males) with a wide range of LV end-diastolic volumes (from 74 to 205 ml) and ejection fractions (from 17 to 70%) underwent two 3D LV data set acquisitions using VividE9 and Artida ultrasound systems. Global longitudinal (Lε), radial (Rε), circumferential (Cε) and area (Aε) strain values were obtained offline using the corresponding 3D STE softwares. Despite being significantly different, Lε showed the closest values between the two platforms (bias = 1.5%, limits of agreement (LOA) from -2.9 to -5.9%, P < 0.05). Artida produced significantly higher values of both Cε and Aε than VividE9 (bias = 6.6, LOA: -14.1 to 0.9%, and bias = 6.0, LOA = -28.2-8.6%, respectively, P < 0.001). Conversely, Rε values obtained with Artida were significantly lower than those measured using VividE9 platform (bias = -24.2, LOA: 1.5-49.9, P < 0.001). All strain components showed good reproducibility (intra-class correlation coefficients: 0.82-0.98), except for Rε by Artida, which showed only a moderate reproducibility. CONCLUSION: Apart from Lε, the inter-vendor agreement of Rε, Cε and Aε measured with Artida and VividE9 was poor. Reference values should be specific for each system and baseline and follow-up data in longitudinal studies should be obtained using the same 3D STE platform.

Tricuspid valve (TV) disease commonly occurs in combination with left-sided heart disease. Despite the growing enthusiasm for developing novel minimally invasive therapies for the mitral or aortic valve, the TV disease formerly received less attention and was frequently left untreated. Strong evidence has increased the awareness of the impact of severe TV regurgitation on patient survival, functional capacity, and surgical risk. Preoperative TV accurate description is challenging because, unlike left-sided valves, a complete visualization of tricuspid annulus and all three leaflets in one view is routinely impossible by two-dimensional transthoracic or transesophageal echocardiography. Three-dimensional echocardiography (3DE) with its unrestricted imaging capabilities has sparked significant research interest for a better understanding and improved treatment of valvular heart disease. This review summarizes the current status of 3DE for the assessment of TV morphology and function, with its clinical applications and current limitations, as well as its potential implications for designing TV repair techniques.